21214[HGNC] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +823 more	Copy number gain	See cases	GPathogenic
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC129995555, LOC129995556 +641 more	Copy number gain	See cases	GPathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	LOC129995829, LOC129995830 +777 more	Copy number gain	See cases	GPathogenic
Select item 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	ADTRP, BLOC1S5 +610 more	Copy number loss	See cases	GPathogenic
Select item 155631	GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3	LOC129995745, LOC129995746 +557 more	Copy number gain	See cases	GLikely pathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ANKRD66, C6orf201 +2580 more	Copy number gain	See cases	GPathogenic
Select item 144540	GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3	SERPINB9-AS1, SLC22A23 +571 more	Copy number gain	See cases	GPathogenic
Select item 58150	GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3	LOC126859578, LOC126859579 +536 more	Copy number gain	See cases	GPathogenic
Select item 154368	GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1	ADTRP, ATXN1 +617 more	Copy number loss	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 146906	GRCh38/hg38 6p25.2-24.1(chr6:4068792-13267799)x1	LOC129995677, LOC129995678 +331 more	Copy number loss	See cases	GPathogenic
Select item 154343	GRCh38/hg38 6p24.2-23(chr6:10601499-13987316)x1	ADTRP, C6orf52 +154 more	Copy number loss	See cases	GPathogenic
Select item 1707465	Single allele	ADTRP, EDN1 +47 more	Duplication	not specified	GUncertain significance
Select item 2507624	NM_032744.4(ADTRP):c.680A>G (p.Lys227Arg)	ADTRP, LOC129995769 (K245R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546334	NM_032744.4(ADTRP):c.665T>C (p.Met222Thr)	ADTRP, LOC129995769 (M222T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346162	NM_032744.4(ADTRP):c.617G>T (p.Ser206Ile)	ADTRP, LOC126859589 (S224I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091407	NM_032744.4(ADTRP):c.505C>A (p.Arg169Ser)	ADTRP (R187S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333066	NM_032744.4(ADTRP):c.427G>A (p.Val143Ile)	ADTRP (V143I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2357870	NM_032744.4(ADTRP):c.410T>A (p.Ile137Asn)	ADTRP (I137N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091395	NM_032744.4(ADTRP):c.195T>A (p.Asp65Glu)	ADTRP (D83E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091388	NM_032744.4(ADTRP):c.176G>T (p.Gly59Val)	ADTRP (G59V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300066	NM_032744.4(ADTRP):c.164C>T (p.Thr55Ile)	ADTRP (T55I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091378	NM_032744.4(ADTRP):c.154-1692A>G	ADTRP (R55G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091374	NM_032744.4(ADTRP):c.134A>T (p.Tyr45Phe)	ADTRP (Y45F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091415	NM_032744.4(ADTRP):c.77A>G (p.Gln26Arg)	ADTRP (Q26R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461751	NM_032744.4(ADTRP):c.29A>G (p.His10Arg)	ADTRP (H10R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337772	NM_032744.4(ADTRP):c.23T>C (p.Ile8Thr)	ADTRP (I8T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684439	GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3	ADTRP, BLOC1S5 +73 more	Copy number gain	not provided	GPathogenic
Select item 1810398	GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3	ADTRP, ATXN1 +89 more	Copy number gain	See cases	GPathogenic
Select item 1527220	GRCh37/hg19 6p24.3-22.3(chr6:8269414-17402660)	RBM24, RNF182 +35 more	Copy number gain	not specified	GLikely pathogenic
Select item 687409	GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3	ADTRP, ATXN1 +95 more	Copy number gain	not provided	GPathogenic
Select item 563140	GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3	ADTRP, ATXN1 +93 more	Copy number gain	not provided	GPathogenic
Select item 563139	GRCh37/hg19 6p25.3-23(chr6:156974-13502033)x3	ADTRP, BLOC1S5 +66 more	Copy number gain	not provided	GPathogenic
Select item 560067	Single allele	ADTRP, ATXN1 +95 more	Duplication	not provided	GPathogenic
Select item 443512	GRCh37/hg19 6p24.2-24.1(chr6:11520032-11852838)x1	ADTRP, TMEM170B	Copy number loss	See cases	GUncertain significance
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 253526	GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3	STMND1, SYCP2L +95 more	Copy number gain	See cases	GPathogenic
Select item 253430	GRCh37/hg19 6p25.1-22.3(chr6:5354402-17950079)x1	ADTRP, ATXN1 +51 more	Copy number loss	See cases	GPathogenic

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Items: 39